Reviewed,
UniProtKB/Swiss-Prot Q96LC9 (BMF_HUMAN)
Last modified
June 16, 2009.
Version 45.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Bcl-2-modifying factor | ||
| Gene names |
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| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 184 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | May play a role in apoptosis. Isoform 1 seems to be the main initiator. |
| Subunit structure | Interacts with MCL1, BCL2, BCL2L1/BCL-Xl, BCL2A1 and BCL2L2/BCL-w. Interacts with the myosin V actin motor complex through its binding to DLC2 By similarity. |
| Tissue specificity | Isoform 1 is mainly expressed in B-lymphoid cells while isoform 2 and isoform 3 are mainly expressed in B-CLL and normal B-cells. Ref.2 |
| Sequence similarities | Belongs to the Bcl-2 family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Apoptosis |
| Coding sequence diversity | Alternative splicing |
| Gene Ontology (GO) | |
| Biological process | apoptosis Ref.1 Inferred from sequence or structural similarity. Source: UniProtKB |
| Cellular component | cytosol Inferred from Experiment. Source: Reactome myosin complex Ref.1Inferred from sequence or structural similarity. Source: UniProtKB plasma membraneInferred from Experiment. Source: Reactome |
| Molecular function | protein binding Ref.1 Inferred from physical interaction. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96LC9-1) Also known as: BMF-I; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q96LC9-2) Also known as: BMF-II; The sequence of this isoform differs from the canonical sequence as follows: 131-151: Missing. | ||||||
| Isoform 3 (identifier: Q96LC9-3) Also known as: BMF-III; The sequence of this isoform differs from the canonical sequence as follows: 98-129: GNAGYRLPLPASFPAVLPIGEQPPEGQWQHQA → APAEPKSCVVADPPLPAQPCFEWRREQERGRP 130-184: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 184 | 184 | Bcl-2-modifying factor | PRO_0000143111 | |||||
Regions | |||||||||
| Region | 67 – 75 | 9 | Interaction with DLC2 By similarity | ||||||
| Motif | 133 – 147 | 15 | BH3 | ||||||
Natural variations | |||||||||
| Alternative sequence | 98 – 129 | 32 | GNAGY…WQHQA → APAEPKSCVVADPPLPAQPC FEWRREQERGRP in isoform 3. | VSP_012293 | |||||
| Alternative sequence | 130 – 184 | 55 | Missing in isoform 3. | VSP_012294 | |||||
| Alternative sequence | 131 – 151 | 21 | Missing in isoform 2. | VSP_012292 | |||||
Experimental info | |||||||||
| Sequence conflict | 61 | 1 | R → Q in AAH69328. Ref.4 | ||||||
| Sequence conflict | 80 | 1 | Q → P in AAH69505. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Bmf: a proapoptotic BH3-only protein regulated by interaction with the myosin V actin motor complex, activated by anoikis." Puthalakath H., Villunger A., O'Reilly L.A., Beaumont J.G., Coultas L., Cheney R.E., Huang D.C.S., Strasser A. Science 293:1829-1832(2001) [PubMed: 11546872] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: T-cell. |
| [2] | "Expression and transcriptional regulation of functionally distinct Bmf isoforms in B-chronic lymphocytic leukemia cells." Morales A.A., Olsson A., Celsing F., Oesterborg A., Jondal M., Osorio L.M. Leukemia 18:41-47(2004) [PubMed: 14574334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY. Tissue: B-cell. |
| [3] | "Characterization of long cDNA clones from human adult spleen." Hattori A., Okumura K., Nagase T., Kikuno R., Hirosawa M., Ohara O. DNA Res. 7:357-366(2000) [PubMed: 11214971] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Spleen. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AY029254 mRNA. Translation: AAK38748.1. AY222040 mRNA. Translation: AAP22965.1. AY222041 mRNA. Translation: AAP22966.1. AK024472 mRNA. Translation: BAB15762.1. Different initiation. BC060783 mRNA. Translation: AAH60783.1. Different initiation. BC069328 mRNA. Translation: AAH69328.1. BC069505 mRNA. Translation: AAH69505.1. BC070043 mRNA. Translation: AAH70043.2. BC104983 mRNA. Translation: AAI04984.1. BC104985 mRNA. Translation: AAI04986.1. | |
| IPI | IPI00385530. IPI00385531. IPI00477176. |
| RefSeq | NP_001003940.1. NP_001003942.1. NP_001003943.1. NP_277038.1. |
| UniGene | Hs.591104 |
3D structure databases | |
| ModBase | Search... |
Genome annotation databases | |
| Ensembl | ENSG00000104081. Homo sapiens. [Contig view] |
| GeneID | 90427. |
| KEGG | hsa:90427. |
Organism-specific databases | |
| GeneCards | GC15M038167. |
| H-InvDB | HIX0012120. |
| HGNC | HGNC:24132. BMF. |
| HPA | HPA010120. |
| MIM | 606266. gene. |
| PharmGKB | PA134893658. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q96LC9. |
| OMA | Q96LC9. FHRLHMQ. |
Enzyme and pathway databases | |
| Reactome | REACT_578. Apoptosis. |
Gene expression databases | |
| ArrayExpress | Q96LC9. |
| Bgee | Q96LC9. |
| CleanEx | HS_BMF. |
| GermOnline | ENSG00000104081. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000712. Bcl2_BH. [Graphical view] |
| PROSITE | PS50062. BCL2_FAMILY. False negative. PS01259. BH3. False negative. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 76756. |
| SOURCE | Search... |
Entry information
| Entry name | BMF_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96LC9 Secondary accession number(s): Q2M396 Q9H7K7 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 15 Human chromosome 15: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


